V122L (p.Val122Leu) variant of SLC25A20 (O43772)
V122L (p.Val122Leu) in SLC25A20 (O43772) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Carnitine acylcarnitine translocase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
V122L (p.Val122Leu) variant details
- p.Val122Leu
- rs150419695
- ClinGen CA2387411
- ClinVar RCV001201938
- ClinVar RCV004033518
- Uncertain significance
- Inborn genetic diseases; Carnitine acylcarnitine translocase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.42
- MetaLR 0.26
- MetaSVM -0.84
- CADD 16.20
- PolyPhen-2 0.08
- SIFT 0.15
- ClinVar: Uncertain significance (Inborn genetic diseases; Carnitine acylcarnitine translocase def)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Carnitine-Acylcarnitine Translocase Deficiency. (PMID 35862567)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)